A study exploring developmental assesments in Osteogenesis imperfecta.
Research type
Research Study
Full title
A feasibility study exploring the suitability of the Bayley Scale of Infant and Toddler Development in assessing children from 16 days to 42 months with Osteogenesis Imperfecta who are under the care of the Metabolic Bone Team at Sheffield Children’s NHS Foundation Trust.
IRAS ID
266051
Contact name
Caroline Marr
Contact email
Sponsor organisation
Sheffield Children's NHS Foundation Trust
Duration of Study in the UK
1 years, 11 months, 28 days
Research summary
Osteogenesis imperfecta (OI) is a rare genetic disorder that affects collagen. Collagen is the most abundant protein in the body and is integral to bone strength. In OI there is either a deficit in the quantity or quality of collagen. Severity of OI extends from mild to life limiting with features varying between the differing types. Predominate features include: a propensity to fracture with little to no trauma; limb and spinal deformity; blue sclera (whites of the eyes); lax or hypermobility joints; pain; fatigue and developmental delay (DD).
DD in OI has been directly linked to the severity of the disorder. However there is no consensus on how to screen for; monitor and facilitate development in this patient group.
The Bayley Scale of Infant and Toddler Development (BSITD) has been identified as a possible tool to assess child development in OI. However the tool has not been validated in this patient group and may not be fit for purpose in those with more severe forms of the condition.
This project has two arms. The first is Patient and Public Involvement and Engagement. The second is a project which aims to investigate the suitability of the Bayley Scale of Infant and Toddler Development in assessing development in OI.
30 participants will be purposefully sampled from a cohort of patients under the age of 30 months, who have a diagnosis of OI and receive care at Sheffield Children NHS Foundation Trust. Each participant will be required to attend 2 separate appointments, at least 3 months apart. Each appointment will include a full physiotherapy assessment and developmental screening. Participation will last for a maximum of one year.
REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
19/YH/0320
Date of REC Opinion
1 Nov 2019
REC opinion
Further Information Favourable Opinion